| 1 | GTF2H5, TTDA
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| A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.
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| Michalska E, Koppolu A, Dobrzańska A, Płoski R, Gruszfeld D.
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| Eur J Med Genet. Sep;62(9):103557. doi: 10.1016/j.ejmg.2018.10.009. Epub 2018 Oct 22. 2019
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| 2 | ERCC2, ERCC3, GTF2H5, TTDA, TTDP, TTDP2, XPB, XPD
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| TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription.
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| Singh A, Compe E, Le May N, Egly JM.
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| Am J Hum Genet 96(2):194-207. doi: 10.1016/j.ajhg.2014.12.012. Epub 2015 Jan 22.
2015
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| 3 | GTF2H5, TTDA
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| Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
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| Moriwaki S, Saruwatari H, Kanzaki T, Kanekura T, Minoshima S.
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| J Dermatol 41(8):705-8. doi: 10.1111/1346-8138.12549. Epub 2014 Jul 2.
2014
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| 4 | GTF2H5, TTDA
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| Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing
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| Nonnekens J, Perez-Fernandez J, Theil AF, Gadal O, Bonnart C, Giglia-Mari G.
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| Hum Mol Genet. Jul 15;22(14):2881-93. doi: 10.1093/hmg/ddt143. Epub 2013 Apr 4. 2013
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| 5 | TTDA
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| Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.
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| Theil AF, Nonnekens J, Wijgers N, Vermeulen W, Giglia-Mari G.
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| Mol Cell Biol 31(17):3630-8. Epub 2011 Jul 5.
2011
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| 6 | GTF2H5, TTDA
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| Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.
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| Theil AF, Nonnekens J, Wijgers N, Vermeulen W, Giglia-Mari G.
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| Mol Cell Biol 31(17):3630-8. doi: 10.1128/MCB.01462-10. Epub 2011 Jul 5.
2011
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| 7 | C7ORF11, ERCC2, GTF2H5, TTDA, TTDN1, XPD
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| Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
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| Hashimoto S, Egly JM.
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| Hum Mol Genet 18(R2):R224-30. Review.PMID: 19808800 2009
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| 8 | CSB, TTDA, XPC, XPD, XPE
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| Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
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| Cleaver JE, Lam ET, Revet I.
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| Nat Rev Genet 10(11):756-68. Epub 2009 Oct 7. Review.PMID: 19809470 2009
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| 9 | ERCC2, GTF2H5, TTDA, XPD
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| Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
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| Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
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| Hum Mutat 29(10):1194-208.
2008
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| 10 | TTDA, TTDN1, XPD
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| Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
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| Faghri S, Tamura D, Kraemer KH, Digiovanna JJ.
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| J Med Genet 45(10):609-21. Epub 2008 Jun 25. Review.
2008
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| 11 | GTF2H5, TTDA
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| Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH.
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| Compe E, Malerba M, Soler L, Marescaux J, Borrelli E, Egly JM.
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| Nat Neurosci 10(11):1414-22. Epub 2007 Oct 21. 2007
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| 12 | CKN1, CSB, TTDA, XPB, XPD, XPG
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| Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
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| Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.
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| Neuroscience 145(4):1388-96. Epub 2007 Feb 1. Review.
2007
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| 13 | GTF2H5, TTDA
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| A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
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| Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W.
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| Nat Genet 36(7):714-9. Epub 2004 Jun 27. 2004
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| 14 | GTF2H5, TTDA
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| Identification of TFB5, a new component of general transcription and DNA repair factor IIH.
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| Ranish JA, Hahn S, Lu Y, Yi EC, Li XJ, Eng J, Aebersold R.
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| Nat Genet 36(7):707-13. Epub 2004 Jun 27. 2004
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| 15 | ERCC3, TTDA, XPB
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| Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.
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| Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM.
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| Nat Genet 26(3):307-13. 2000
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